Chelban, 2017: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Central motor conduction time abnormality
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies
Nerve conduction studies other abnormalities
Show more (+1)
n.a.
p.Arg562*: het
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
Cognitive impairment
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
Central motor conduction time abnormality
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Central motor conduction time abnormality
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies
Nerve conduction studies other abnormalities
Show more (+1)
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Seizures
Cognitive impairment
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
Psychosis
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Pes cavus
Dystonia (any or unspecified)
Spasticity, lower limb
n.a.
p.Arg562*: het
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Nerve conduction studies other abnormalities
Peripheral neuropathy on nerve conduction studies
Central motor conduction time abnormality
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Peripheral neuropathy on nerve conduction studies
Nerve conduction studies other abnormalities
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
Cognitive impairment
Mri brain other abnormalities
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Seizures
Spasticity, lower limb
Nerve conduction studies other abnormalities
Peripheral neuropathy on nerve conduction studies
Central motor conduction time abnormality
Show more (+2)
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Seizures
Central motor conduction time abnormality
Nerve conduction studies other abnormalities
Cognitive impairment
Dysphagia
Spasticity, lower limb
Peripheral neuropathy on nerve conduction studies
Show more (+4)
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
Gait ataxia
Ophthalmoplegia
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Nerve conduction studies other abnormalities
Central motor conduction time abnormality
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb
Show more (+1)
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Seizures
Spasticity, lower limb
n.a.
Yes
n.a.
n.a.
GBR
n.a.
n.a.
No
Peripheral neuropathy on nerve conduction studies
Cognitive impairment
Central motor conduction time abnormality
Spasticity, lower limb
Show more (+1)
n.a.